ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) (rs16929093)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756588 SCV000884444 benign not provided 2017-10-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280026 SCV000371790 likely benign Histiocytic medullary reticulosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352049 SCV000371791 likely benign Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000529010 SCV000646382 benign Combined cellular and humoral immune defects with granulomas; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249107 SCV000304739 benign not specified criteria provided, single submitter clinical testing

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